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1993 1
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Page 1
Identification of PEX7 as the second gene involved in Refsum disease.
van den Brink DM, Brites P, Haasjes J, Wierzbicki AS, Mitchell J, Lambert-Hamill M, de Belleroche J, Jansen GA, Waterham HR, Wanders RJ. van den Brink DM, et al. Am J Hum Genet. 2003 Feb;72(2):471-7. doi: 10.1086/346093. Epub 2003 Jan 9. Am J Hum Genet. 2003. PMID: 12522768 Free PMC article.
Rhizomelic Chondrodysplasia Punctata Type 1.
Braverman NE, Steinberg SJ, Fallatah W, Duker A, Bober MB. Braverman NE, et al. 2001 Nov 16 [updated 2020 Jan 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2001 Nov 16 [updated 2020 Jan 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301447 Free Books & Documents. Review.